Genetics of variation in human color vision and the retinal cone mosaic

Deeb, Samir S.

doi:10.1016/j.gde.2006.04.002

Cited by 65 publications

(36 citation statements)

References 34 publications

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“…Among the 600 gene fusions described for eukaryotes (Kummerfeld and Teichmann 2005), all those identified as human-specific are associated with disease or abnormality. One possible exception is the family of X chromosome gene fusions of OPN1MW/LW that cause anomalous color detection in males (Nathans et al 1986), but may benefit female carriers (Deeb 2006). As shown for other SNPs at these loci, heterozygous females have enhanced color discrimination (Jameson et al 2001).…”

Section: Discussionmentioning

confidence: 99%

Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes

Norman¹,

Abi-Rached²,

et al. 2009

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Natural killer (NK) cells contribute to the essential functions of innate immunity and reproduction. Various genes encode NK cell receptors that recognize the major histocompatibility complex (MHC) Class I molecules expressed by other cells. For primate NK cells, the killer-cell immunoglobulin-like receptors (KIR) are a variable and rapidly evolving family of MHC Class I receptors. Studied here is KIR3DL1/S1, which encodes receptors for highly polymorphic human HLA-A and -B and comprises three ancient allelic lineages that have been preserved by balancing selection throughout human evolution. While the 3DS1 lineage of activating receptors has been conserved, the two 3DL1 lineages of inhibitory receptors were diversified through inter-lineage recombination with each other and with 3DS1. Prominent targets for recombination were D0-domain polymorphisms, which modulate enhancer function, and dimorphism at position 283 in the D2 domain, which influences inhibitory function. In African populations, unequal crossing over between the 3DL1 and 3DL2 genes produced a deleted KIR haplotype in which the telomeric ''half'' was reduced to a single fusion gene with functional properties distinct from its 3DL1 and 3DL2 parents. Conversely, in Eurasian populations, duplication of the KIR3DL1/S1 locus by unequal crossing over has enabled individuals to carry and express alleles of all three KIR3DL1/S1 lineages. These results demonstrate how meiotic recombination combines with an ancient, preserved diversity to create new KIR phenotypes upon which natural selection acts. A consequence of such recombination is to blur the distinction between alleles and loci in the rapidly evolving human KIR gene family.

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Section: Discussionmentioning

confidence: 99%

Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes

Norman¹,

Abi-Rached²,

et al. 2009

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“…Interestingly, recent studies have revealed the unexpected finding that vertebrate cone and rod PRs develop from a common precursor (Mears et al, 2001;Oh et al, 2007) (e.g. akin to OPRs versus IPRs), and that medium/long wavelength-sensitive cone PRs develop at least in part by suppressing short wavelength-sensitive cone PR development (Applebury et al, 2007;Deeb, 2006;Ng et al, 2001;Roberts et al, 2006) (e.g. akin to R8 versus R7 decisions).…”

Section: Research Articlementioning

confidence: 99%

Senseless functions as a molecular switch for color photoreceptor differentiation inDrosophila

et al. 2007

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A major question in development is how different specialized cell types arise from a common progenitor. In the adult Drosophila compound eye, color discrimination is achieved by UV-, blue-and green-sensitive photoreceptors (PRs). These different PR subsets arise from neuronal precursors called R7 and R8 cells. Recent studies have demonstrated that R7-based UV-sensitive PRs require the repression of R8-based blue/green-sensitive PR characteristics to properly develop. This repression is mediated by the transcription factor Prospero (Pros). Here, we report that Senseless (Sens), a Drosophila ortholog of the vertebrate Gfi1 transcription factor, plays an opposing role to Pros by both negatively regulating R7-based features and positively enforcing R8-based features during terminal differentiation. In addition, we demonstrate that Pros and Sens function together with the transcription factor Orthodenticle (Otd) to oppositely regulate R7 and R8 PR Rhodopsin gene expression in vitro. These data show that sens, previously shown to be essential for neuronal specification, also controls differentiation of specific neuronal subtypes in the retina. Interestingly, Pros has recently been shown to function as a tumor suppressor, whereas Gfi1 is a well-characterized oncogene. Thus, we propose that sens/pros antagonism is important for regulating many biological processes.

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“…Which X-chromosome will be expressed in a given cone cell is determined by a process known as X-chromosome inactivation [24], which ensures that only one allele is expressed per cone [23]. This, in combination with the random distribution of cones in the human retina [25][26][27], results in a mosaic of patches of cones that express the same allele [28], either the mutant allele or the normal allele. This process also results in retinas expressing four different types of cone pigments (one anomalous L-or M-cone pigment in addition to the normal L-, M-, and S-cone pigments [6,14,22,29]).…”

Section: Introductionmentioning

confidence: 99%

Performance of normal females and carriers of color-vision deficiencies on standard color-vision tests

Dees

Baraas

2014

J. Opt. Soc. Am. A

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Carriers of red-green color-vision deficiencies are generally thought to behave like normal trichromats, although it is known that they may make errors on Ishihara plates. The aim here was to compare the performance of carriers with that of normal females on seven standard color-vision tests, including Ishihara plates. One hundred and twenty-six normal females, 14 protan carriers, and 29 deutan carriers aged 9-66 years were included in the study. Generally, deutan carriers performed worse than protan carriers and normal females on six out of the seven tests. The difference in performance between carriers and normal females was independent of age, but the proportion of carriers that made errors on pseudo-isochromatic tests increased with age. It was the youngest carriers, however, who made the most errors. There was considerable variation in performance among individuals in each group of females. The results are discussed in relation to variability in the number of different L-cone pigments.

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Genetics of variation in human color vision and the retinal cone mosaic

Cited by 65 publications

References 34 publications

Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes

Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes

Senseless functions as a molecular switch for color photoreceptor differentiation inDrosophila

Performance of normal females and carriers of color-vision deficiencies on standard color-vision tests

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